A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme

被引：12

作者：

Leuzzi, V

Carducci, C

Matricardi, M

Bianchi, MC

Di Sabato, ML

Artiola, C

Antonozzi, I

机构：

[1] Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00185 Rome, Italy

[2] Univ Roma La Sapienza, Dept Expt Med & Pathol, I-00161 Rome, Italy

[3] Sci Inst Stella Maris, Dept Child Neurol & Psychiat, I-56018 Calabrone, Pisa, Italy

来源：

MOLECULAR GENETICS AND METABOLISM | 2006年 / 87卷 / 01期

关键词：

GAMT deficiency; GAMT activity; mental retardation; creatine deficiency; brain; creatine;

D O I：

10.1016/j.ymgme.2005.09.017

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A new patient affected by Guanidinoacetate methyltransferase (GAMT) deficiency was reported. This 13-year-old girl presented with mental retardation, as main symptom, associated with a typical pattern of biochemical and neurochemical (brain magnetic resonance spectroscopy) alterations. Molecular study detected a L197P transition on exon 6 of the GAMT gene. Since this mutation leaves the isoform B of the GAMT enzyme unaffected, the occurrence of biochemical alterations and disease in this subject testifies against the possibility that isoform b had GAMT activity. (c) 2005, Elsevier Inc. All rights reserved.

引用

页码：88 / 90

页数：3

共 22 条

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